Y119N (p.Tyr119Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
Y119N (p.Tyr119Asn) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
Y119N (p.Tyr119Asn) variant details
- p.Tyr119Asn
- TOPMed rs1672177218
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- Structural context available